Search

Author/Creator Hill, R. Sean

1. Deficient activity of alanyl‐tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy. Issue 10 (23rd June 2017)

Authors:
Nakayama, Tojo; Wu, Jiang; Galvin‐Parton, Patricia; Weiss, Jody; Andriola, Mary R.; Hill, R. Sean; Vaughan, Dylan J.; El‐Quessny, Malak; Barry, Brenda J.; Partlow, Jennifer N.; Barkovich, A. James; Ling, Jiqiang; Mochida, Ganeshwaran H.
Journal:
Human mutation
Issue:
Volume 38:Issue 10(2017)
Page Start:
1348
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features. Issue 8 (13th November 2018)

Authors:
Khalil, Raida; Kenny, Connor; Hill, R. Sean; Mochida, Ganeshwaran H.; Nasir, Ramzi; Partlow, Jennifer N.; Barry, Brenda J.; Al‐Saffar, Muna; Egan, Chloe; Stevens, Christine R.; Gabriel, Stacey B.; Barkovich, A. James; Ellison, Jay W.; Al‐Gazali, Lihadh; Walsh, Christopher A.; Chahrour, Maria H.
Journal:
American journal of medical genetics
Issue:
Volume 177:Issue 8(2018)
Page Start:
736
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

Limit your search